Incidental Mutation 'R3720:Mei1'
| ID |
258873 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mei1
|
| Ensembl Gene |
ENSMUSG00000068117 |
| Gene Name |
meiotic double-stranded break formation protein 1 |
| Synonyms |
mei1 |
| MMRRC Submission |
040711-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.393)
|
| Stock # |
R3720 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
81954275-82011018 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 81987405 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 399
(H399R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140479
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089178]
[ENSMUST00000186125]
[ENSMUST00000188048]
[ENSMUST00000189540]
[ENSMUST00000229119]
|
| AlphaFold |
Q9D4I2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089178
AA Change: H773R
PolyPhen 2
Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000086582
Gene: ENSMUSG00000068117
AA Change: H773R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
30 |
N/A |
INTRINSIC |
|
SCOP:d1gw5a_
|
123 |
498 |
1e-3 |
SMART |
|
low complexity region
|
956 |
966 |
N/A |
INTRINSIC |
|
low complexity region
|
1025 |
1045 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186125
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000188048
AA Change: H399R
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139689
Gene: ENSMUSG00000068117
AA Change: H399R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
523 |
536 |
N/A |
INTRINSIC |
|
low complexity region
|
595 |
615 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000189540
AA Change: H399R
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000140479
Gene: ENSMUSG00000068117
AA Change: H399R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
523 |
536 |
N/A |
INTRINSIC |
|
low complexity region
|
595 |
615 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000229119
AA Change: H823R
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.6918 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
93% (40/43) |
| MGI Phenotype |
PHENOTYPE: Homozygous mutant mice of both sexes exhibit meiotic defects and are infertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Appl1 |
G |
A |
14: 26,649,801 (GRCm39) |
T575M |
probably damaging |
Het |
| Atp2c1 |
A |
T |
9: 105,300,175 (GRCm39) |
M708K |
probably damaging |
Het |
| C9 |
A |
G |
15: 6,512,600 (GRCm39) |
T241A |
possibly damaging |
Het |
| Ccrl2 |
T |
C |
9: 110,885,432 (GRCm39) |
D22G |
probably benign |
Het |
| Cd47 |
A |
G |
16: 49,688,205 (GRCm39) |
I42V |
probably benign |
Het |
| Cntnap5c |
T |
C |
17: 58,637,197 (GRCm39) |
S1025P |
probably benign |
Het |
| Col8a1 |
T |
C |
16: 57,447,279 (GRCm39) |
M744V |
unknown |
Het |
| Cstf3 |
A |
G |
2: 104,483,431 (GRCm39) |
|
probably benign |
Het |
| Dnah8 |
G |
A |
17: 31,073,872 (GRCm39) |
R4514H |
probably damaging |
Het |
| Dnai1 |
G |
A |
4: 41,602,615 (GRCm39) |
R113H |
probably damaging |
Het |
| Fry |
T |
C |
5: 150,378,037 (GRCm39) |
S410P |
probably damaging |
Het |
| Glt6d1 |
ACCC |
ACCCC |
2: 25,685,179 (GRCm39) |
|
probably null |
Het |
| Gm10717 |
A |
G |
9: 3,025,532 (GRCm39) |
Y39C |
probably benign |
Het |
| Hivep1 |
C |
T |
13: 42,312,077 (GRCm39) |
T1439I |
probably benign |
Het |
| Iqgap2 |
T |
C |
13: 95,805,036 (GRCm39) |
|
probably null |
Het |
| Kbtbd11 |
T |
A |
8: 15,079,118 (GRCm39) |
C572* |
probably null |
Het |
| Kif1c |
T |
C |
11: 70,594,597 (GRCm39) |
F86L |
possibly damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Ldb1 |
C |
T |
19: 46,033,331 (GRCm39) |
|
probably benign |
Het |
| Lrmda |
T |
A |
14: 22,077,399 (GRCm39) |
|
probably benign |
Het |
| Med23 |
T |
C |
10: 24,767,018 (GRCm39) |
L369S |
probably damaging |
Het |
| Myo1b |
G |
T |
1: 51,815,505 (GRCm39) |
H614N |
possibly damaging |
Het |
| Neurl1b |
C |
T |
17: 26,633,949 (GRCm39) |
T4M |
probably damaging |
Het |
| Or10al7 |
T |
C |
17: 38,366,259 (GRCm39) |
Y66C |
probably damaging |
Het |
| Or5t15 |
T |
C |
2: 86,681,935 (GRCm39) |
T36A |
probably benign |
Het |
| Polg |
G |
A |
7: 79,106,539 (GRCm39) |
Q163* |
probably null |
Het |
| Pramel12 |
A |
G |
4: 143,145,949 (GRCm39) |
T473A |
probably benign |
Het |
| Sdk2 |
G |
A |
11: 113,691,070 (GRCm39) |
P1835L |
probably damaging |
Het |
| Slc35a5 |
A |
T |
16: 44,967,685 (GRCm39) |
I138N |
probably damaging |
Het |
| Snx31 |
T |
C |
15: 36,523,704 (GRCm39) |
|
probably null |
Het |
| Speg |
A |
T |
1: 75,403,426 (GRCm39) |
H2590L |
probably damaging |
Het |
| Spink4 |
T |
A |
4: 40,929,136 (GRCm39) |
C54S |
probably damaging |
Het |
| Swap70 |
A |
G |
7: 109,869,254 (GRCm39) |
E349G |
probably damaging |
Het |
| Sybu |
A |
G |
15: 44,536,028 (GRCm39) |
V766A |
possibly damaging |
Het |
| Tns3 |
G |
A |
11: 8,442,999 (GRCm39) |
R455W |
probably damaging |
Het |
| Tnxb |
T |
A |
17: 34,931,938 (GRCm39) |
V2157E |
possibly damaging |
Het |
| Trak2 |
A |
T |
1: 58,985,404 (GRCm39) |
|
probably null |
Het |
| Trav18 |
C |
T |
14: 54,069,074 (GRCm39) |
R39C |
possibly damaging |
Het |
| Uroc1 |
G |
A |
6: 90,323,337 (GRCm39) |
V352M |
probably damaging |
Het |
| Zfp106 |
A |
C |
2: 120,365,080 (GRCm39) |
I442M |
probably benign |
Het |
| Zfp935 |
G |
A |
13: 62,602,846 (GRCm39) |
Q98* |
probably null |
Het |
|
| Other mutations in Mei1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01612:Mei1
|
APN |
15 |
81,973,753 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01776:Mei1
|
APN |
15 |
81,980,133 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01864:Mei1
|
APN |
15 |
81,997,218 (GRCm39) |
splice site |
probably benign |
|
|
IGL02030:Mei1
|
APN |
15 |
81,999,944 (GRCm39) |
missense |
probably benign |
|
|
IGL02148:Mei1
|
APN |
15 |
81,976,912 (GRCm39) |
nonsense |
probably null |
|
|
R0135:Mei1
|
UTSW |
15 |
81,956,170 (GRCm39) |
nonsense |
probably null |
|
|
R0212:Mei1
|
UTSW |
15 |
81,980,132 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0537:Mei1
|
UTSW |
15 |
81,975,562 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0605:Mei1
|
UTSW |
15 |
81,954,351 (GRCm39) |
missense |
probably benign |
|
|
R0727:Mei1
|
UTSW |
15 |
81,954,350 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1118:Mei1
|
UTSW |
15 |
82,000,068 (GRCm39) |
splice site |
probably benign |
|
|
R1226:Mei1
|
UTSW |
15 |
81,964,285 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1339:Mei1
|
UTSW |
15 |
81,966,196 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1558:Mei1
|
UTSW |
15 |
81,991,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1769:Mei1
|
UTSW |
15 |
81,996,771 (GRCm39) |
splice site |
probably null |
|
|
R1868:Mei1
|
UTSW |
15 |
82,009,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1980:Mei1
|
UTSW |
15 |
81,987,513 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1981:Mei1
|
UTSW |
15 |
81,987,513 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1982:Mei1
|
UTSW |
15 |
81,987,513 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2103:Mei1
|
UTSW |
15 |
81,991,237 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2103:Mei1
|
UTSW |
15 |
81,987,405 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2207:Mei1
|
UTSW |
15 |
81,987,450 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2444:Mei1
|
UTSW |
15 |
81,997,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3009:Mei1
|
UTSW |
15 |
81,996,726 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3114:Mei1
|
UTSW |
15 |
82,009,160 (GRCm39) |
missense |
probably benign |
0.31 |
|
R3546:Mei1
|
UTSW |
15 |
81,982,243 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3721:Mei1
|
UTSW |
15 |
81,987,405 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3722:Mei1
|
UTSW |
15 |
81,987,405 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3752:Mei1
|
UTSW |
15 |
81,970,383 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3778:Mei1
|
UTSW |
15 |
81,966,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3848:Mei1
|
UTSW |
15 |
81,997,218 (GRCm39) |
splice site |
probably benign |
|
|
R3933:Mei1
|
UTSW |
15 |
81,967,353 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4274:Mei1
|
UTSW |
15 |
82,009,064 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4765:Mei1
|
UTSW |
15 |
81,996,686 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5070:Mei1
|
UTSW |
15 |
81,961,804 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5394:Mei1
|
UTSW |
15 |
81,976,957 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6108:Mei1
|
UTSW |
15 |
81,959,389 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6302:Mei1
|
UTSW |
15 |
81,987,439 (GRCm39) |
nonsense |
probably null |
|
|
R6849:Mei1
|
UTSW |
15 |
81,964,146 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6913:Mei1
|
UTSW |
15 |
81,973,810 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6919:Mei1
|
UTSW |
15 |
81,966,131 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6959:Mei1
|
UTSW |
15 |
82,009,076 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7007:Mei1
|
UTSW |
15 |
81,978,200 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7202:Mei1
|
UTSW |
15 |
81,976,843 (GRCm39) |
missense |
|
|
|
R7374:Mei1
|
UTSW |
15 |
81,980,109 (GRCm39) |
missense |
|
|
|
R7438:Mei1
|
UTSW |
15 |
81,999,682 (GRCm39) |
missense |
|
|
|
R7757:Mei1
|
UTSW |
15 |
81,966,824 (GRCm39) |
intron |
probably benign |
|
|
R7857:Mei1
|
UTSW |
15 |
81,976,918 (GRCm39) |
missense |
not run |
|
|
R8265:Mei1
|
UTSW |
15 |
81,987,508 (GRCm39) |
nonsense |
probably null |
|
|
R8728:Mei1
|
UTSW |
15 |
81,966,182 (GRCm39) |
missense |
|
|
|
R8902:Mei1
|
UTSW |
15 |
81,954,212 (GRCm39) |
missense |
unknown |
|
|
R9048:Mei1
|
UTSW |
15 |
81,969,036 (GRCm39) |
nonsense |
probably null |
|
|
R9233:Mei1
|
UTSW |
15 |
81,973,752 (GRCm39) |
missense |
|
|
|
R9285:Mei1
|
UTSW |
15 |
81,985,170 (GRCm39) |
missense |
|
|
|
R9660:Mei1
|
UTSW |
15 |
81,966,098 (GRCm39) |
missense |
|
|
|
R9689:Mei1
|
UTSW |
15 |
81,997,129 (GRCm39) |
missense |
|
|
|
R9728:Mei1
|
UTSW |
15 |
81,966,098 (GRCm39) |
missense |
|
|
|
RF051:Mei1
|
UTSW |
15 |
81,954,211 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCATTCTGATGAGCAGCGTG -3'
(R):5'- CTACCAGCAAAATGAGTAGGATGC -3'
Sequencing Primer
(F):5'- CAGCGTGCTGTTCTGGGATG -3'
(R):5'- CTCTGGAGCACACGGAACAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation